Geleophysic Dysplasia 1

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the ADAMTSL2 gene, encoding ADAMTS-like protein 2. It is characterized by severe short stature, short hands and feet, skin thickening, and variable cardiorespiratory abnormalities.

**Synonyms:** - GPHYSD1